Results 41 to 50 of about 683 (144)

Correlation of polygenic risk score and clinical phenotype in patients with genetic generalized epilepsy

Epilepsia, EarlyView.
Abstract Objective The polygenic risk score (PRS) for individuals with genetic generalized epilepsy (GGE) quantifies the common risk variants in genes identified in genome‐wide association studies. We hypothesized that the phenotype of GGE patients differs based on their GGE PRS. Methods We identified participants with highest (n = 59) versus lowest (n 
Sophie von Brauchitsch, Nils Hartung, Robin A. Karge, Bobby Koeleman, Samuel F. Berkovic, Danielle M. Andrade, Francesca Bisulli, Antonio Gambardella, Renzo Guerrini, Ingrid E. Scheffer, Ingo Helbig, Wolfram S. Kunz, Holger Lerche, Hiltrud Muhle, Christian Boßelmann, Savvas S. Papacostas, Mark I. Rees, Sanjay M. Sisodiya, Pasquale Striano, Lynnette Sadleir, Yvonne Weber, Dennis Lal, Costin Leu, Philipp S. Reif, Stefan Wolking, Felix Rosenow, Karl Martin Klein, for the Epi25 Collaborative   +27 more
wiley   +1 more source

EEG biomarkers for the diagnosis and treatment of infantile spasms

Frontiers in Neurology, 2022
Early diagnosis and treatment are critical for young children with infantile spasms (IS), as this maximizes the possibility of the best possible child-specific outcome.
Blanca Romero Milà, Blanca Romero Milà, Kavyakantha Remakanthakurup Sindhu, John R. Mytinger, Daniel W. Shrey, Daniel W. Shrey, Beth A. Lopour   +6 more
doaj   +1 more source

Inherited metabolic epilepsies–established diseases, new approaches

Epilepsia Open, EarlyView.
Abstract Inherited metabolic epilepsies (IMEs) represent the inherited metabolic disorders (IMDs) in which epilepsy is a prevailing component, often determining other neurodevelopmental outcomes associated with the disorder. The different metabolic pathways affected by individual IMEs are the basis of their rarity and heterogeneity.
Itay Tokatly Latzer, Phillip L. Pearl
wiley   +1 more source

Persistence of Hypsarrhythmia in Children Beyond the Age of Three Years

, 2011
Occurrence of hypsarrhythmia after the age of 3 years is rare. The objective of this study is to describe a group of patients who have persistence of hypsarrhythmia after the age of 3 years.
Ignacio Valencia, Divya S. Khurana, Agustin Legido, Karen S. Carvalho, Kandan Kulandaivel, Joseph J. Melvin   +5 more
core   +1 more source

Case Report: Rituximab Improved Epileptic Spasms and EEG Abnormalities in an Infant With West Syndrome and Anti-NMDAR Encephalitis Associated With APECED

Frontiers in Neurology, 2021
Background: Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy is a rare autosomal recessive disorder caused by a mutation in the autoimmune regulator gene.
Go Kawano, Takaoki Yokochi, Ryuta Nishikomori, Yoriko Watanabe, Keizo Ohbu, Yukitoshi Takahashi, Haruo Shintaku, Toyojiro Matsuishi, Toyojiro Matsuishi, Toyojiro Matsuishi   +9 more
doaj   +1 more source

Epilepsy syndromes classification

Epilepsia Open, EarlyView.
Abstract Epilepsy syndromes are distinct electroclinical entities which have been recently defined by the International League Against Epilepsy Nosology and Definitions Task Force. Each syndrome is associated with “a characteristic cluster of clinical and EEG features, often supported by specific etiologic findings”.
Elaine C. Wirrell, Nicola Specchio, Rima Nabbout, Phillip L. Pearl, Kate Riney   +4 more
wiley   +1 more source

Characteristics of EEG-based Brain Connectivity in Infantile Spasms Patients with Hypsarrhythmia [PDF]

, 2015
An infantile spasms syndrome is a subset of epileptic syndrome occurring in children less than two years old. Approximately two-thirds of these patients have hypsarrhythmia, whose EEG patterns display large amplitudes, multifocal sharp waves, and ...
Bajaj, Vaibhav
core  

Single-Epileptic Spasms with or without Hypsarrhythmia: A Study of 16 Patients

, 2017
Objective We evaluated the electroclinical features, etiology, treatment, and outcome of 16 patients with single-epileptic spasms (ESs) with or without hypsarrhythmia (WoH). Methods Nine boys and seven girls had single-ESs.
Roberto Caraballo, Sebastian Fortini, Piero Pavone, Juan Pociecha, Gabriela Valenzuela, Raffaele Falsaperla, Robinson Gutierrez   +6 more
core   +2 more sources

Hypsarrhythmia in epileptic spasms: Synchrony in chaos [PDF]

Seizure, 2018
Hypsarrhythmia is an electroencephalographic pattern associated with epileptic spasms and West syndrome. West syndrome is a devastating epileptic encephalopathy, originating in infancy. Hypsarrhythmia has been deemed to be the interictal brain activity, while the electrodecremental event associated with the spasms is denoted as the ictal event.
Vera Nenadovic, Robyn Whitney, Jason Boulet, Miguel A. Cortez   +3 more
openaire   +2 more sources

Intestinal microbiome alterations in pediatric epilepsy: Implications for seizures and therapeutic approaches

Epilepsia Open, EarlyView.
Abstract The intestinal microbiome plays a pivotal role in maintaining host health through its involvement in gastrointestinal, immune, and central nervous system (CNS) functions. Recent evidence underscores the bidirectional communication between the microbiota, the gut, and the brain and the impact of this axis on neurological diseases, including ...
Teresa Ravizza, Greta Volpedo, Antonella Riva, Pasquale Striano, Annamaria Vezzani   +4 more
wiley   +1 more source